Results 81 to 90 of about 64,666 (262)
Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges
International Journal of Neonatal Screening, 2015 With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently
Esther M. Maier
doaj +1 more source
Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity [PDF]
, 2023 Michael Setzer +3 more
openalex +1 more source
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +3 more sources
Inborn errors of immunity: Rare cause of chronic immune thrombocytopenia
, 2023 Safquat Jalil +5 more
openalex +1 more source
Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]
, 2019 Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core +1 more source
A Newborn Screening Programme for Inborn Errors of Metabolism in Galicia: 22 years of evaluation and follow-up [PDF]
, 2023 María L. Couce +9 more
openalex +1 more source
Some Inherited Disorders of Brain and Muscle: Proceedings of The Fifth Symposium of The Society for the Study of Inborn Errors of Metabolism [PDF]
, 1970 openalex +1 more source